Madelung's Disease: A Rare Cause of Dyspnea

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Exceptional manifestation of Madelung's disease after liver transplantation.

Unlike simple obesity, Madelung's disease (MD) is a rare disease characterized by symmetric accumulation of massive adipose tissue on the neck, the superior part of the trunk and limbs, leading to a pathognomonic cosmetic deformity. Here, we report an extremely rare case of MD associated with bilateral gynecomastia in a 61-year-old man, with a history of recent liver transplantation for alcoholic liver disease (ALD).

Madelung's disease and acute alcoholic hepatitis: case report and review of literature.

Madelung's disease is a rare condition characterized by symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms, and trunk. It often affects men with a history of alcohol abuse. Here we report a review of the literature about this disease together with the description of a patient affected by Madelung's disease and acute alcoholic hepatitis.

Madelung disease: A case report.

RATIONALE: Madelung disease (MD), a rarely reported disease, also known as benign symmetric lipomatosis, a disorder resulting from alcoholic abuse. It's largely under-recognized and under-reported, possibly because of unawareness of the condition by physicians. PATIENT CONCERNS: A 45-year-old Chinese man presented with intermittent fatigue and abdominal distension and progressive bilateral breast enlargement. He has been a heavy drinker for ten years before onset of the disease with an average daily alcohol intake of more than 120 g/day. DIAGNOSIS: Due to the patient's symptoms, laboratory test results, radiographic findings, he was diagnosed with MD. INTERVENTIONS: We treated him with abstinence from alcohol and supportive therapy. OUTCOMES: The patient is now in stable condition, with improvement in symptoms during follow-up. LESSONS: Doctors, confronted with progressive bilateral breast enlargement in a patient with alcoholic liver disease, should be aware of the underreported MD. Recognition of this syndrome could help doctors establish diagnosis and emphasize the importance of alcohol abstinence as the mainstay of management.

Deformidad de Madelung: presentación de un caso / Madelung deformity: case report

La deformidad de Madelung es una alteración poco común de la articulación de las muñecas, con una prevalencia desconocida por los pocos casos reportados hasta la actualidad. Se vincula a mutaciones del gen SHOX. Se caracteriza por presentar alteraciones en el radio, el carpo y el cúbito, con predominio bilateral. Afecta principalmente a pacientes de sexo femenino; los signos y síntomas se revelan al inicio de la adolescencia. Presentamos el caso clínico de una paciente de sexo femenino de 17 años que registra las manifestaciones clínicas y radiográficas características. (AU)

Madelung deformity is a rare alteration of the wrist joint of unknown prevalence due to the few cases reported. It has been linked to SHOX gene mutations. Madelung deformity is characterized by alterations of the radius, carpus and ulna, predominantly bilateral and mainly seen in female patients at the beginning of the adolescence. We report the clinical case of a 17-yearold female patient presenting the characteristic clinical and radiographic deformities. (AU)

Radiology Case Of The Month: Mental Disturbance for 4 days.

A 56 year old African-American man presented to the emergency department with dyspnea and dysphagia with drooling. On his initial evaluation, disproportionate obesity of the face, neck and shoulders were noted. The patient's history was significant for obstructive sleep apnea, end-stage renal disease, alcoholic liver disease, pulmonary hypertension and alcoholic cardiomyopathy. He had multi-decade history of heavy alcohol abuse, but quit drinking two years previously.

Madelung Disease Affecting Scrotal Region.

Madelung disease is an uncommon disease characterized by large subcutaneous adipose masses. Mediterranean countries show higher disease incidence. We review the current concepts concerning this pathology, including etiology, diagnosis, and treatment. Madelung disease usually affects the upper half of the body, but we describe a patient with scrotal lipomas. As this location is rare, we review the cases found in literature, as well as the specific nuances regarding local symptoms and treatment.

Multiple Symmetrical Lipomatosis--a mitochondrial disorder of brown fat.

Multiple Symmetrical Lipomatosis (MSL) is an unusual disorder characterized by the development of axial lipomas in adulthood. The pathoetiology of lipoma tissue in MSL remains unresolved. Seven patients with MSL were followed for a mean period of 12 years (8-20 years). All patients had cervical lipomas ranging from subtle lesions to disfiguring masses; six patients had peripheral neuropathy and five had proximal myopathy. Myoclonus, cerebellar ataxia and additional lipomas were variably present. All patients showed clinical progression. Muscle histopathology was consistent with mitochondrial disease. Five patients were positive for mtDNA point mutation m.8344A>G, three of whom underwent lipoma resection--all samples were positive for uncoupling protein-1 mRNA (unique to brown fat). Lipoma from one case stained positive for adipocyte fatty-acid protein-2 (unique to brown fat and immature adipocytes). This long-term study hallmarks the phenotypic heterogeneity of MSL's associated clinical features. The clinical, genetic and molecular findings substantiate the hypothesis that lipomas in MSL are due to a mitochondrial disorder of brown fat.

Lipomatose simétrica múltipla: relato de dois casos / Multiple symmetric lipomatosis: report of two cases

Multiple symmetric lipomatosis is an unusual disease of unknown etiology. It is characterized by symmerical accumulation of fat tissue deposits in neck, face, trunk and proximal limbs. It is more common in mole adult subjects with a history of alcohol intake. Paliative surgery is the main treatment and it can be performed by conventional open excision or liposuction. Recurrence is common. The objetive of this article is to report two cases of multiple symmetric lipomatosis treated by liposuction in Regional Hospital of Asa Norte, in Brasilia - Federal District...

A lipomatose simétrica múltipla é uma doença incomum, de etiologia desconhecida, caracterizada pelo acúmulo simétrico de depósitos de tecido adiposo em face, pescôço, tronco e região proximal dos membros. É mais frequente em indivíduos adultos do sexo masculino, geralmente com história de etilismo. O tratamento é cirúrgico, com ressecção paliativa por via aberta ou por lipoaspiração. A recidiva é comum. O presente artigo tem por objetivo relatar dois casos de lipomatose simétrica múltipla, tratados por lipoaspiração no Hospital Regional da Asa Norte, em Brasília-DF...

[A man with a pseudo-athletic posture]. / Een man met een pseudo-atletisch uiterlijk.

We describe a 50-year-old man with slowly progressive symmetric nonencapsulated fatty deposits on the shoulders, upper extremities en abdomen. These clinical findings are compatible with Madelungs disease and are associated with alcohol abuses and polyneuropathy.

The endocrine and metabolic evaluation of benign symmetrical lipomatosis: a case report and literature review.

OBJECTIVE: Benign symmetrical lipomatosis (BSL) is a rare disease characterized by the presence of multiple, symmetric and nonencapsulated fat masses. Alcoholism is observed in nearly 90% patients. However the etiology of this disease is still unclarified. BSL is very rare in Chinese people. Herein we described the endocrine and metabolic status of a patient with typical BSL. We also discussed the clinical manifestation, etiology, diagnosis and treatment for BSL. RESULTS: Hyperuricemia and abnormal liver enzyme levels were observed in this case. However insulin sensitivity and function of the thyroid, adrenal glands and pituitary were all normal. The insulin sensitivity was assessed by the hyperinsulinemic euglycemic clam. CONCLUSIONS: Although an association had been found between BSL and some endocrinological or metabolic disorders including abnormal glucose tolerance, excessive secretion of insulin, hyperuricemia, and so on, they were not specific for BSL. It is necessary to develop into the pathogenesis of BSL further.

Doença de Madelung: relato de caso e revisão da literatura / Madelung's disease: a case report and literature review

Relata-se o caso de um paciente portador da doença de Madelung, definida clinicamente pela presença de múltiplos acúmulos de tecido adiposo não encapsulados, usualmente envolvendo a região cervical e superior do tórax, de distribuição simétrica. O exame de imagem eleito para confirmação do diagnóstico foi tomografia computadorizada, por ser menos dispendiosa e mais acessível, comparando-se à ressonância magnética.

The authors report the case of a patient with Madelung's disease, which is clinically described as the presence of multiple and symmetric non-encapsulated masses of fatty tissue, usually involving the neck and the upper region of the trunk. Computed tomography was selected as the imaging method for diagnosis confirmation, considering its lower cost and higher availability as compared with magnetic resonance imaging.